Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A5
Variant:p.F64L

SLC26A5

166 papers

RefSeq Summary

This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act ...

Pfam Domains

Sulfate_transpaa 80–475UCSCSulfate permease family
STASaa 526–709UCSCSTAS domain

Gene Aliases

HGNC Name

solute carrier family 26 member 5

HGNC Previous Symbol

PRES

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198999.3
p.F64L
c.192C>A
Surrounding Variants
1 paper
NM_198999.3
p.N59_F64delFs
c.176_191del16
2 papers
NM_198999.3
p.P66T
c.196C>A
1 paper
NM_198999.3
p.P66L
c.197C>T
1 paper
NM_198999.3
p.M63V
c.187A>G
1 paper
NM_198999.3
p.I67V
c.199A>G
1 paper
NM_198999.3
p.T68P
c.202A>C
8 papers
NM_198999.3
p.W70*
c.209G>A
8 papers
NM_198999.3
p.W70*
c.210G>A
1 paper
NM_198999.3
p.L71delFs
c.211delG
1 paper
NM_198999.3
p.K55fs
c.163_164fs
1 paper
NM_198999.3
p.Y74*
c.222C>G
1 paper
NM_198999.3
p.Y74*
c.222C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."